Related Experiment Video

Updated: Jan 21, 2026

Modeling Spontaneous Metastatic Renal Cell Carcinoma mRCC in Mice Following Nephrectomy
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Modeling Spontaneous Metastatic Renal Cell Carcinoma mRCC in Mice Following Nephrectomy

Published on: April 29, 2014

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TSC1/2 mutations as markers of response to everolimus in metastatic renal cell carcinoma: A case study

Linu A Jacob1, Gowhar Shafi2

  • 1Department of Medical Oncology, Fortis Hospital, Bengaluru, Karnataka, India.

Indian Journal of Cancer
|August 8, 2019
PubMed

Insights

A patient with metastatic renal cell carcinoma (mRCC) resistant to pazopanib experienced an exceptional response to everolimus. This response was linked to TSC1 and TSC2 mutations, suggesting their potential as biomarkers for mTOR inhibitor therapy in mRCC.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Metastatic renal cell carcinoma (mRCC) poses significant treatment challenges, with limited response rates to conventional therapies.
  • Targeted therapies, including mTOR inhibitors, offer treatment options for mRCC, but patient response is variable.
  • Identifying predictive biomarkers is crucial for optimizing treatment strategies in mRCC.

Observation:

  • A 67-year-old male patient with pazopanib-resistant mRCC was treated with everolimus.
  • This patient exhibited an exceptional clinical response to everolimus therapy.
  • Genetic analysis revealed the presence of TSC1 and TSC2 mutations in the patient's tumor.

Findings:

  • The patient's tumor harbored both TSC1 and TSC2 mutations.
  • The exceptional response to everolimus suggests a potential link between these mutations and mTOR inhibitor efficacy.
  • This case supports emerging evidence that TSC1 and TSC2 mutations may predict response to mTOR inhibitors.

Implications:

  • TSC1 and TSC2 mutations could serve as predictive biomarkers for everolimus or other mTOR inhibitors in mRCC.
  • This finding may guide personalized treatment selection for mRCC patients.
  • Further research into the role of TSC1/TSC2 mutations in mRCC treatment response is warranted.
Keywords:
EverolimusTSC1/2 mutationsmTOR inhibitorsmetastatic renal cell carcinoma

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